Canonical Allele Identifier: CA1619378762

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950902C= , CM000668.2:g.31950902C=	GRCh38
NC_000006.11:g.31918679C= , CM000668.1:g.31918679C=	GRCh37
NC_000006.10:g.32026658C=	NCBI36
NG_008191.1:g.9959C= , LRG_136:g.9959C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2300C=
ENST00000483004.2:c.1597C=	ENSP00000419887.2:p.Arg533=
ENST00000698628.1:c.1625-242C=	ENSP00000513848.1:n.1625-242C=
ENST00000698629.1:n.2085C=
ENST00000698630.1:n.2529C=
ENST00000698631.1:n.2530C=
ENST00000698632.1:n.3419C=
ENST00000698633.1:n.3309C=
ENST00000425368.7:c.1813C= MANE Select	ENSP00000416561.2:p.Arg605=
ENST00000425368.6:c.1813C=	ENSP00000416561.2:p.Arg605=
ENST00000456570.5:c.3319C=	ENSP00000410815.1:p.Arg1107=
ENST00000467360.1:n.939C=
ENST00000477310.1:c.2866C=	ENSP00000418996.1:p.Arg956=
ENST00000482312.1:n.29C=
ENST00000483004.1:c.435C=
NM_001710.5:c.1813C= , LRG_136t1:c.1813C=	NP_001701.2:p.Arg605=
NM_001710.6:c.1813C= MANE Select	NP_001701.2:p.Arg605=